Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes.
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ABSTRACT:
SUBMITTER: Hettiarachchi D
PROVIDER: S-EPMC6875291 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Publications
Two Novel Variants in the <i>ATRX</i> Gene Associated with Variable Phenotypes.
Hettiarachchi D D Pathirana B A P S BAPS Kumarasiri P J PJ Dissanayake V H W VHW
Case reports in genetics 20191106
The X-linked alpha-thalassemia mental retardation (ATR-X) syndrome is a rare genetic condition caused by mutations in the X-encoded gene <i>ATRX</i>. Here we describe two unrelated patients of Sri Lankan origin with novel missense variants in the <i>ATRX</i> gene: c.839C>T|p.Cys280Tyr and c.5369C>T|p.Ala1790Val. These two novel variants were associated with variable phenotypes which clinically resembled X-linked mental retardation-hypotonic facies syndrome and Smith-Fineman-Myers syndrome respec ...[more]
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